A number of tests are available for the breed. Two or more of these tests purchased as part of this bundle will be discounted.
- Collie Eye Anomaly associated with the NHEJ1 gene
- Hereditary Cataract associated with the HSF4 gene
- Hyperuricosuria associated with the SLC2A9 gene
- Multi-Drug Resistance associated with the ABCB1 gene
- Neuronal ceroid lipofuscinosis (NCL7 type) associated with the MFSD8
- Progressive retinal atrophy associated with the PRCD gene
Collie Eye Anomaly
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Collie Eye Anomaly/Choroidal Hypoplasia (CEA/CH) is a developmental defect of the eye. Specifically, the abnormal development of the choroid – an important layer of tissue under the retina of the eye – in which there is a decrease in the development of the blood vessels. Puppies can be diagnosed by an ophthalmologist as early as 6-8 weeks of age. As the puppies get older the tapetum (the reflective layer at the back of the eye) develops and this can hide the signs of CEA. This phenomenon is called “go normal”, but it does not mean that CEA goes away or gets better. Affected dogs can also have optic disc coloboma and retinal detachment.
Cataracts are a leading form of blindness in the dog. Cataracts associated with an HSF4 deletion, specific to Australian Shepherds, usually appear early in life, but can also appear later. The cataracts will progress to complete blindness if the dogs live long enough and the only effective treatment is a surgical intervention. Dogs that carry (have one copy) of the HSF4 deletion are 17 times more likely to develop binocular cataracts than dogs without the variant.
The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the Urethra.
In certain breeds a mutation on the ABCB1 gene, which encodes the MDR1 protein (which stands for Multi Drug Resistance 1) can cause animals that carry the mutation to be particularly sensitive to certain drugs. The variant was first detected in a subpopulation of dogs that were highly sensitive to Ivermectin-induced neurotoxicity. The variant on the ABCB1 gene results in the brain being unable to efficiently pump some drugs out, causing a toxic build-up of these drugs in the brain. Dogs subsequently experience and range of symptoms from vomiting and diarrhea to lethargy, seizures, or coma.
Neuronal ceroid lipofuscinosis (NCL7 type)
Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease characterised by brain and retinal atrophy. The lipopigment lipofuscin builds up in the neural cells and some organs, such as liver, spleen, kidneys etc. This storage causes neuronal loss, cortical atrophy, and cerebellar and retinal degeneration resulting in seizures, progressive deterioration of cognition (dementia), motor function impairment (involuntary movements, myoclonus, ataxia, spasticity) and blindness.
Progressive retinal atrophy (PRCD type)
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Progressive retinal atrophy (PRA) is the most common form of inherited disease affecting the retina in dogs. Genetically different forms of PRA, caused by mutations in different genes, affect many breeds of dog with each form usually affecting one or a small number of breeds. PRA is characterised by progressive degeneration of the retina at the back of the eye and leads to vision loss and blindness.
Progressive Rod Cone Degeneration (PRCD) is a form of PRA and was one of the first PRAs for which a genetic variant was identified. PRCD is different than most forms of PRA in that the variant has been found in a large number and diverse range of breeds.